Adult Partial Anomalous Pulmonary Venous Connection: Case Reports (Including a Case of Scimitar Syndrome).

Partial anomalous pulmonary venous connection (PAPVC) is a congenital heart defect in which one or more pulmonary veins drain abnormally into the systemic venous circulation, leading to the development of pulmonary arterial hypertension. It can be supracardiac type, draining into the superior vena cava or right atrium (also called cardiac type) and infracardiac type with drainage into the inferior vena cava (IVC). We present two cases-supracardiac and infracardiac types of PAPVC in this case report.

Scimitar syndrome with vein stenosis in an infant.

Scimitar syndrome is characterised by right lung hypoplasia and abnormal pulmonary venous return, known as the 'scimitar vein'. We report the case of an infant girl with scimitar syndrome who developed a severe respiratory distress mimicking asthma. Pulmonary hypertension (PH) was diagnosed, attributed to scimitar vein stenosis and a left-to-right shunt. Scimitar vein stenosis, a rare complication of scimitar syndrome, can lead to severe PH, highlighting the importance of prompt management in specialised care centres.

Isolated Partial Anomalous Pulmonary Veins: A 10-Year Experience at a Single Center.

INTRODUCTION: Isolated partial anomalous pulmonary venous connection (PAPVC) is difficult to diagnose, and surgical indications remain controversial. We reviewed 10 y of isolated PAPVC cases. METHODS: The data of patients with isolated PAPVC admitted to the Anzhen Congenital Heart Disease Department from 2010 to 2019 were reviewed retrospectively. RESULTS: Thirty patients, aged between 4 mo and 32 y, were included in this study. Significant correlations were found between the right ventricle (RV), end-diastolic dimension Z-score (RVED-z) and age (r = 0.398, P = 0.03), and between estimated pulmonary pressure and age (r = 0.423, P = 0.02). However, no significant correlations were found between the RVED-z and the number of anomalous pulmonary veins (r = 0.347, P = 0.061), between estimated pulmonary pressure and the RVED-z (r = 0.218, P = 0.248), and between estimated pulmonary pressure and the number of anomalous veins (r = 0.225, P = 0.232). Transthoracic echocardiography (TTE) confirmed 90% of isolated PAPVC cases. Surgical repair was performed in 29 patients with RV enlargement, persistent low weight, pulmonary hypertension, or respiratory symptoms. Among the surgical patients, nine had elevated pulmonary pressure before surgery, which decreased postoperatively; no mortality or reintervention was observed. The mean duration of echocardiographic follow-up was 1.9 y. CONCLUSIONS: TTE is recommended for routine assessments, and further clarification can be obtained with computed tomography when TTE proves inconclusive for diagnosis. Transesophageal echocardiography and computed tomography are further recommended for adult patients if TTE fails to provide clear results. PAPVC should be considered as an underlying cause when unexplained RV enlargement is observed. Surgery is recommended for patients with RV enlargement, pulmonary hypertension, or respiratory symptoms.

Better Late Than Never - A Case of a Congenital Left Partial Anomalous Pulmonary Venous Drainage Diagnosed and Treated in The Sixth Decade of Life.

Partial anomalous pulmonary venous drainage (PAPVD) is a relatively uncommon cardiac anomaly. The diagnosis might be challenging as are the presenting symptoms. Its clinical course mimics more familiar diseases, e.g., pulmonary artery embolism. We present a case of PAPVD, which had been misdiagnosed for more than two decades. After establishing the correct diagnosis, the patient got his congenital anomaly surgically corrected and showed excellent cardiac recovery in the six months follow up.

Reintervention and mortality risk after total anomalous pulmonary venous connection repair.

BACKGROUND: Management of total anomalous pulmonary venous connections has been extensively studied to further improve outcomes. Our institution previously reported factors associated with mortality, recurrent obstruction, and reintervention. The study purpose was to revisit the cohort of patients and evaluate factors associated with reintervention, and mortality in early and late follow-up. METHODS: A retrospective review at our institution identified 81 patients undergoing total anomalous pulmonary venous connection repair from January 2002 to January 2018. Demographic and operative variables were evaluated. Anastomotic reintervention (interventional or surgical) and/or mortality were primary endpoints. RESULTS: Eighty-one patients met the study criteria. Follow-up ranged from 0 to 6,291 days (17.2 years), a mean of 1263 days (3.5 years). Surgical mortality was 16.1% and reintervention rates were 19.8%. In re-interventions performed, 80% occurred within 1.2 years, while 94% of mortalities were within 4.1 months. Increasing cardiopulmonary bypass times (p = 0.0001) and the presence of obstruction at the time of surgery (p = 0.025) were predictors of mortality, while intracardiac total anomalous pulmonary venous connection type (p = 0.033) was protective. Risk of reintervention was higher with increasing cardiopulmonary bypass times (p = 0.015), single ventricle anatomy (p = 0.02), and a post-repair gradient >2 mmHg on transesophageal echocardiogram (p = 0.009). CONCLUSIONS: Evaluation of a larger cohort with longer follow-up demonstrated the relationship of anatomic complexity and symptoms at presentation to increased mortality risk after total anomalous pulmonary venous connection repair. The presence of a single ventricle or a post-operative confluence gradient >2 mmHg were risk factors for reintervention. These findings support those found in our initial study.

Impact of Total Anomalous Pulmonary Venous Connection in Staged Single Ventricle Palliation.

BACKGROUND: Total anomalous pulmonary venous connection (TAPVC) with a functional single ventricle is a risk factor for mortality during staged palliation. This study aimed to assess TAPVC's impact on staged palliation outcomes. METHODS: In a total of 602 patients with a functional single ventricle who underwent stage 1 palliation (S1P) at our center between 2001 and 2020, 39 (6.5%) patients were associated with TAPVC. Median age at S1P was 12.0 (interquartile range, 7-21) days with a body weight of 3.1 (interquartile range, 2.8-3.6) kg. Outcomes during staged palliation were compared with the remaining 563 patients without TAPVC. Risk factors for mortality were identified using a Cox proportional hazards regression model. RESULTS: Primary diagnosis in functional single-ventricle patients with TAPVC included hypoplastic left heart syndromes (n = 13), unbalanced atrioventricular septal defects (n = 12) tricuspid atresias (n = 2), double inlet left ventricle (n = 1), and others (n = 11). Types of TAPVC were supracardiac (n = 21), cardiac (n = 10), infracardiac (n = 6), and mixed (n = 2). Pulmonary venous obstruction (PVO) was associated in 19 (49%) patients. S1Ps included Norwood (n = 13), aortopulmonary shunt (n = 21), and pulmonary artery banding (n = 5). Thirty-day mortality after S1P was significantly increased in patients with TAPVC vs without TAPVC (43.6% vs 16.3%; P < .001). After bidirectional cavopulmonary shunt and total cavopulmonary connection procedures, mortality was low in both groups, and no statistically significant differences were found. Correction of TAPVC at the time of S1P was not found to be a significant risk factor in univariable Cox regression analysis. In univariate and multivariate analysis, PVO was identified as an independent risk factor for mortality in patients with TAPVC (P < .001). CONCLUSIONS: Overall survival is lower in TAPVC single-ventricle patients than in non-TAPVC patients. Most deaths after S1P were associated with TAPVC, but not after S2P. PVO is a mortality risk factor in TAPVC patients.

Fetal Doppler Echocardiographic Assessment Predicts Severe Postnatal Obstruction in Total Anomalous Pulmonary Venous Connection.

BACKGROUND: Obstructed total anomalous pulmonary venous connection (TAPVC) is a form of critical congenital heart disease that usually requires urgent postnatal intervention. Knowing which patients have severe obstruction can aid delivery planning. The authors previously developed a novel quantitative metric of pulmonary venous flow, the pulmonary venous variability index (PVVI). The aim of this study was to test the hypothesis that fetal PVVI and vertical vein Doppler velocities are associated with severe pulmonary vein obstruction postnatally. METHODS: A retrospective cohort study of neonates with prenatally diagnosed TAPVC was performed. Patients who underwent fetal echocardiography at the Children's Hospital of Philadelphia with Doppler interrogation of the vertical vein were included for analysis. Twenty-nine patients met criteria (21 with heterotaxy, 18 with supracardiac TAPVC). The latest gestation fetal echocardiogram was used. Severe pulmonary vein obstruction was defined as preoperative death or urgent surgery or catheter-based intervention (first day of life). Measurements of PVVI, defined as (maximum velocity - minimum velocity)/mean velocity, were made offline. Wilcoxon rank sum models were used to assess the associations of severe obstruction and PVVI and maximum, mean, and minimum velocities. RESULTS: The mean gestational age at the latest fetal echocardiographic examination was 35 weeks (range, 30-39 weeks). Twelve of the 29 patients (41%) met criteria for severe pulmonary vein obstruction. Lower PVVI was associated with greater risk for severe pulmonary venous obstruction (P = .008). The maximum, mean, and minimum velocities in the vertical vein were all significantly associated with severe pulmonary venous obstruction (P = .03, P = .03, and P = .007, respectively). Qualitative assessment of obstruction was not significantly associated with the outcome. Interobserver reliability for all vertical vein Doppler metrics was high (intraclass correlation coefficient > 0.9). CONCLUSIONS: Fetal PVVI and maximum, mean, and minimum velocities are associated with severe postnatal pulmonary vein obstruction in TAPVC. Accurate prediction of obstructed TAPVC could allow safer delivery planning. Further research with larger sample sizes is needed to identify the ideal cutoff values for these Doppler measures.

Anomalous Connection of the Left Pulmonary Vein to the Coronary Sinus with Intact Atrial Septum in a Young Woman.

BACKGROUND: Left-sided partial anomalous pulmonary venous connection (PAPVC) is a rare congenital abnormal cardiac defect. An intact atrial septum is more uncommon. As we know, a connection of the left pulmonary vein (LPV) to the coronary sinus (CS) with an intact atrial septum has not been previously reported. CASE REPORT: We report an 18-year-old woman with this rare anomaly. She showed no obvious clinical symptoms. An echocardiogram revealed the primary diagnosis, and this diagnosis was confirmed during the operation. This patient underwent a successful surgical repair. Artificial atrial septal defect (ASD) and coronary sinus orifice were inserted into the left atrium by patch. The patient recovered smoothly without complications after the operation. CONCLUSION: Given the high risk of developing congestive heart failure, we advocate for intervention at the preschool age. Surgical techniques depend on the number and location of abnormal veins or veins.

Surgical Treatment of Total Anomalous Pulmonary Venous Drainage with Atrial Fibrillation in an Adult: A Case Report and Literature Review.

Total anomalous pulmonary venous drainage (TAPVD) is caused by the absence of the congenital connection between the pulmonary vein and left atrium. This causes blood drainage into the right atrium, resulting in poor development of the left atrium and increasing the burden for the right atrium. It is accompanied by an atrial septal defect. TAPVD mostly is diagnosed during the fetal period and rarely is reported in adults. Atrial fibrillation (AF), a common arrhythmia, originates primarily from the joint of the pulmonary vein and left atrium, whereas AF originating from the right atrium has not been documented. Herein, we report the case of a 45-year-old male diagnosed with TAPVD accompanied by AF. After the correction of TAPVD and radiofrequency ablation (RFA) for AF performed under general anesthesia and cardiopulmonary bypass, the patient returned to normal sinus rhythm and showed no AF recurrence during two years of follow up.

Multifactorial pulmonary hypertension in infantile scimitar syndrome.

BACKGROUND: Pulmonary hypertension in infantile scimitar syndrome is highly prevalent at diagnosis, and has a multifactorial origin. AIMS: To analyse the constellation of anatomical anomalies and initial physiology, and their contribution to pulmonary hypertension and outcome in infantile scimitar syndrome. METHODS: Pulmonary hypertension causes were classified into five categories: associated with systemic supply to the right lung; associated with left-to-right shunt; postcapillary; related to respiratory or developmental lung disease; and "idiopathic-like" pulmonary arterial hypertension. Co-morbidities contributing to pulmonary hypertension were also classified according to the World Symposium on Pulmonary Hypertension (WSPH) and Panama classifications. RESULTS: Of 111 patients, 64 had pulmonary hypertension; 24 patients had one cause of pulmonary hypertension, 23 had two potential causes and 17 had at least three potential causes. Co-morbidities contributing to pulmonary hypertension described the multifactorial origin in>80% of patients, with associated congenital heart disease being the main contributor. Mortality was 41% in patients with and 7% in patients without pulmonary hypertension. The proportions of deaths among patients with one, two or more than two causes of pulmonary hypertension were similar. Eight of 38 survivors had persisting pulmonary hypertension at last follow-up. The risk of death was associated pulmonary hypertension at diagnosis (P=0.002) and the presence of an associated congenital heart disease requiring surgical repair (P=0.039). CONCLUSIONS: Scimitar syndrome is an archetypal example of multifactorial causes of pulmonary hypertension, with associated congenital heart disease and pulmonary vascular anomalies being the main contributors. Infants with scimitar syndrome require accurate phenotyping to guide management and predict outcome.

The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

BACKGROUND: Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present. METHODS: Our study included patients with scimitar syndrome diagnosed at Texas Children's Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review. RESULTS: Ninety-eight patients were identified with scimitar syndrome, 89 of which met inclusion criteria. A chromosome analysis or chromosomal microarray analysis was performed in 18 patients (20%). Whole-exome sequencing was performed in six patients following negative chromosomal microarray analysis testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six per cent of the cohort had some type of extracardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extracardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia. CONCLUSIONS: Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.

Partial anomalous pulmonary venous connection and pulmonary venous varix coexist in Turner syndrome: a case report.

Turner syndrome is a clinical syndrome caused by autosomal abnormalities in women. It is often accompanied by congenital cardiovascular malformations commonly including a bicuspid aortic valve malformation and aortic coarctation, but the presence of multiple pulmonary venous abnormalities is extremely rare. We present a 27-year-old woman who was diagnosed with Turner syndrome. She was revealed an anomalous right upper pulmonary venous connection, left upper pulmonary vein obstruction, and varicose vein malformations of the left pulmonary veins by a series of examination. Cardiac catheterisation and selective pulmonary angiography can further confirm the diagnosis, morphological characteristics, haemodynamic significance and provide a reference for the next step of treatment.

Repair technique for a rare partial anomalous pulmonary venous return associated with retroaortic innominate vein.

BACKGROUND: Retroaortic innominate vein (RIV) is a rare vascular abnormality. Although RIV itself is asymptomatic, its presence in patients with partial anomalous pulmonary venous return (PAPVR) to the superior vena cava (SVC) is surgically challenging because a simple Warden procedure is impossible. CASE PRESENTATION: A 16-year-old girl was diagnosed with tetralogy of Fallot, secundum, and sinus venosus atrial septal defect (ASD) at birth. She underwent total correction of tetralogy of Fallot and ASD closure at the age of 14-months. However, the diagnosis of PAPVR was missed. At the age of 16, she developed dyspnea on exercise. Echocardiography demonstrated severe pulmonary regurgitation, mild tricuspid regurgitation, and D-shaped left ventricle with paradoxical septal motion along with RIV and sinus venous ASD. Computed tomography confirmed RIV and PAPVR. Systemic and pulmonary venous blood pathways were separated by bovine pericardial patch, and pulmonary valve replacement was performed. Postoperative echocardiography demonstrated improvement of D-shaped left ventricle and laminar flow through the SVC and pulmonary veins. Postoperative computed tomography showed a well-reconstructed SVC and pulmonary venous pathway without stenosis. After an uneventful postoperative course, patient was discharged. CONCLUSIONS: PAPVR in patients with RIV may be surgically challenging to repair. We report the first case of successfully repaired PAPVR associated with RIV.

A Rare Variant of Hypogenetic Lung Syndrome Mimicking Scimitar Vein.

Hypogenetic lung syndrome, also known as scimitar syndrome, is a rare and well-known congenital condition that includes hypoplastic right pulmonary artery and lung, right displacement of the heart, anomalous systemic arterial supply to the lung, and a characteristically curved anomalous right pulmonary vein draining into the inferior vena cava. In exceptional cases, the anomalous pulmonary vein may drain into left atrium. We here report a case of a 17-year-old girl with a rare variant of hypogenetic lung syndrome diagnosed by means of multimodality imaging and treated with percutaneous occlusion of the aortopulmonary collateral.

Management of Partial Anomalous Pulmonary Venous Return In Lung Transplantation.

This report describes the case of a patient who underwent bilateral lung transplantation for idiopathic pulmonary arterial hypertension with coexisting partial anomalous pulmonary venous return and tracheal bronchus. The hypoplastic and low-positioned left atrial orifice caused by abnormal reflux of the right upper pulmonary vein and high-positioned right upper lobe bronchus made right anastomosis challenging. To prevent excessive tension on left atrial anastomosis, the donor's right main bronchus was anastomosed to the recipient's bronchus intermedius, a maneuver that resulted in successful anastomosis and an uneventful postoperative course.

Robotic Repair of Adult Left-Sided Partial Anomalous Pulmonary Venous Connection.

Isolated anomalous drainage of the left pulmonary vein to the left innominate vein is a rare variant of partial anomalous pulmonary venous connection. Here, we describe 2 adult patients with this variant who underwent successful robotic totally endoscopic repair with anastomosis of the pulmonary vein to the left atrial appendage.